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Human mutation

Showing results (1711-1720 of 5,734) with videos related to

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Human Mutation|August 22, 2015
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL AssociationAlina C Hilger, Jan Halbritter, Tracie Pennimpede, et al.
Human Mutation|June 10, 2016
Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA SyndromeTarja Linnankivi, Nirajan Neupane, Uwe Richter, et al.
Human Mutation|May 7, 2019
The TALE homeodomain of PBX1 is involved in human primary testis-determinationCaroline Eozenou, Anu Bashamboo, Joelle Bignon-Topalovic, et al.
Human Mutation|May 10, 2019
Predicting the change of exon splicing caused by genetic variant using support vector regressionKen Chen, Yutong Lu, Huiying Zhao, et al.
Human Mutation|May 22, 2019
Disease-associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortexIsabel A Hemming, Olivier Clément, Ivan E Gladwyn-Ng, et al.
Human Mutation|August 7, 2018
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsiaNicole Weisschuh, Katarina Stingl, Isabelle Audo, et al.
Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.
Human Mutation|October 18, 2018
IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsyCheryl Shoubridge, Robert J Harvey, Tracy Dudding-Byth
Human Mutation|April 25, 2018
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, et al.
Human Mutation|April 25, 2018
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disabilityServi J C Stevens, Vyne van der Schoot, Magalie S Leduc, et al.
Pageof 574

Showing results (1711-1720 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|August 22, 2015
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL AssociationAlina C Hilger, Jan Halbritter, Tracie Pennimpede, et al.
Human Mutation|June 10, 2016
Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA SyndromeTarja Linnankivi, Nirajan Neupane, Uwe Richter, et al.
Human Mutation|May 7, 2019
The TALE homeodomain of PBX1 is involved in human primary testis-determinationCaroline Eozenou, Anu Bashamboo, Joelle Bignon-Topalovic, et al.
Human Mutation|May 10, 2019
Predicting the change of exon splicing caused by genetic variant using support vector regressionKen Chen, Yutong Lu, Huiying Zhao, et al.
Human Mutation|May 22, 2019
Disease-associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortexIsabel A Hemming, Olivier Clément, Ivan E Gladwyn-Ng, et al.
Human Mutation|August 7, 2018
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsiaNicole Weisschuh, Katarina Stingl, Isabelle Audo, et al.
Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.
Human Mutation|October 18, 2018
IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsyCheryl Shoubridge, Robert J Harvey, Tracy Dudding-Byth
Human Mutation|April 25, 2018
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, et al.
Human Mutation|April 25, 2018
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disabilityServi J C Stevens, Vyne van der Schoot, Magalie S Leduc, et al.
Pageof 574